Lois M. Collins covers policy and research impacting families for the Deseret News.
SALT LAKE CITY — Kiri Duke-Rosati is laughing uproariously as he bounces an orange balloon at the ceiling, his high, sweet voice tickling the ears of the adults who talk around him. He's 3½ and unconcerned by their serious faces and voices.
His mom and dad, Jazmynn Pok and Anthony Duke-Rosati, are talking about death.Kiri, whose name means "mountain" in Khmer because it hints at power and strength, has a tough road ahead unless a stranger intervenes.When he was born, Utah's newborn screening test found he has adrenoleukodystrophy — ALD for short — a rare disease that's unfamiliar to most people unless they saw the movie "Lorenzo's Oil." ALD is an inherited metabolic disorder that primarily affects young males. Kiri Duke-Rosati, 3, leaps off the couch as he plays “keepy uppy” with a balloon in his home in Holladay on Monday. His parents are searching for a bone marrow donor that could save his life. Once symptoms appear, ALD follows a strange and frightening path.While the condition is rare — an estimated 1 case in 17,000 live births — the most recent of his twice-a-year MRIs showed that Kiri has the most severe form, cerebral adrenoleukodystrophy, which occurs in about 1 in 42,500 or 1 in 48,500 live births, according to Adrenoleukodystrophy.info. Now that brain changes have shown up on a scan, it could be just days or weeks before symptoms appear, his parents were told.And CALD, untreated, is nearly always fatal.Typically, symptoms start with behavior changes, which doctors sometimes misdiagnose initially as attention deficit hyperactivity disorder if no genetic test was done, according to Healthline. After that, the order that symptoms appear varies, but a child with CALD has some combination of hearing and vision loss, a tough time walking, inability to control bladder or bowel, seizures, and trouble chewing or swallowing or talking. Many children with CALD over time need a feeding tube, become blind, lose their ability to move on their own and eventually suffer complete paralysis, before their bodies shut down entirely.Hope for Kiri Jazmynn Pok gets a kiss from her son, Kiri, 3, as her husband Anthony Duke-Rosati stands next to her at their Holladay home on Monday. Doctors told the family that the deadline to start Kiri's treatment is Sept. 8. This Holladay husband and wife are racing to save their middle child before symptoms show up, as nothing will reve
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